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- Title
Generation of the Sotos syndrome deletion in mice.
- Authors
Migdalska, Anna; Weyden, Louise; Ismail, Ozama; Rust, Alistair; Rashid, Mamunur; White, Jacqueline; Sánchez-Andrade, Gabriela; Lupski, James; Logan, Darren; Arends, Mark; Adams, David
- Abstract
Haploinsufficiency of the human 5q35 region spanning the NSD1 gene results in a rare genomic disorder known as Sotos syndrome (Sotos), with patients displaying a variety of clinical features, including pre- and postnatal overgrowth, intellectual disability, and urinary/renal abnormalities. We used chromosome engineering to generate a segmental monosomy, i.e., mice carrying a heterozygous 1.5-Mb deletion of 36 genes on mouse chromosome 13 ( 4732471D19Rik-B4galt7), syntenic with 5q35.2-q35.3 in humans ( Df( 13) Ms2Dja mice). Surprisingly Df(13)Ms2Dja mice were significantly smaller for their gestational age and also showed decreased postnatal growth, in contrast to Sotos patients. Df(13)Ms2Dja mice did, however, display deficits in long-term memory retention and dilation of the pelvicalyceal system, which in part may model the learning difficulties and renal abnormalities observed in Sotos patients. Thus, haploinsufficiency of genes within the mouse 4732471D19Rik- B4galt7 deletion interval play important roles in growth, memory retention, and the development of the renal pelvicalyceal system.
- Subjects
LABORATORY mice; LONG-term memory; CHROMOSOMES; GESTATIONAL age; CYSTIC fibrosis; CERAMIDES; ELECTROPHORESIS
- Publication
Mammalian Genome, 2012, Vol 23, Issue 11/12, p749
- ISSN
0938-8990
- Publication type
Academic Journal
- DOI
10.1007/s00335-012-9416-0